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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Central Portal

MSeqDR Data Summary for the Term KRT81:

Ensembl Gene ID	Associated Gene Name	LSDB Genes	LSDB Variants	clinVar hits	Ensembl Gene ID	Ensembl Transcript ID	Ensembl Protein ID	Description	Chr	Gene Start	Gene End	Strand	Band	Transcript Start bp	Transcript End bp	Associated Gene Name	Associated Transcript Name	Associated Gene DB	Associated Transcript DB	Transcript count	pct GC content	Gene Biotype	Transcript Biotype	Source Gene	Source Transcript	Status gene	Status transcript	EntrezGene ID	HGNC ID	HGNC Symbol	RefSeq mRNA	Seq region id
ENSG00000205426	KRT81	0	0	0	ENSG00000205426	ENST00000327741	ENSP00000369349	keratin 81 [Source:HGNC Symbol;Acc:6458]	12	52679697	52685318	-1	q13.13	52679697	52685318	KRT81	KRT81-001	HGNC Symbol	HGNC transcript name	1	58.16	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	3887	6458	KRT81	NM_002281	27519

MSeqDR Master Exome Data Set M1: 48 entries from same gene

No.	Chr	Position	Reference	Variant	EnsemblTranscriptID	EnsemblGeneID	Gene_Start	Gene_End	EnsemblProteinID	Gene	strand	Uniprot	cChange	pChange	Nature	dbSNP	Freq	EVS	phastCons	SIFT	Polyphen	HGMD	type	samples
1	12	52679714	T	C	ENST00000327741	ENSG00000205426	52679697	52685318	ENSP00000369349	KRT81	-1	KRT81_HUMAN	-	-	3'_UTR	NA	-	-	lod=31:336	-	-	-	het	7
2	12	52679798	T	+G	ENST00000327741	ENSG00000205426	52679697	52685318	ENSP00000369349	KRT81	-1	KRT81_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
3	12	52679937	C	-AGG	ENST00000327741	ENSG00000205426	52679697	52685318	ENSP00000369349	KRT81	-1	KRT81_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
4	12	52679937	C	G	ENST00000327741	ENSG00000205426	52679697	52685318	ENSP00000369349	KRT81	-1	KRT81_HUMAN	-	-	3'_UTR	rs3660	0.43874	-	-	-	-	-	het	329
5	12	52679937	C	G	ENST00000327741	ENSG00000205426	52679697	52685318	ENSP00000369349	KRT81	-1	KRT81_HUMAN	-	-	3'_UTR	rs3660	0.43874	-	-	-	-	-	hom	165
6	12	52680008	T	C	ENST00000327741	ENSG00000205426	52679697	52685318	ENSP00000369349	KRT81	-1	KRT81_HUMAN	-	-	3'_UTR	rs3657	0.4314	C=4266/T=4152;C=2088/T=2204;C=6354/T=6356	-	-	-	-	het	351
7	12	52680008	T	C	ENST00000327741	ENSG00000205426	52679697	52685318	ENSP00000369349	KRT81	-1	KRT81_HUMAN	-	-	3'_UTR	rs3657	0.4314	C=4266/T=4152;C=2088/T=2204;C=6354/T=6356	-	-	-	-	hom	180
8	12	52680031	T	-G	ENST00000327741	ENSG00000205426	52679697	52685318	ENSP00000369349	KRT81	-1	KRT81_HUMAN	-	-	3'_UTR	rs201146279	-	-	-	-	-	-	het	12
9	12	52680104	C	T	ENST00000327741	ENSG00000205426	52679697	52685318	ENSP00000369349	KRT81	-1	KRT81_HUMAN	c.1453G>A	p.V485M	non-syn	rs115355093	0.0181	T=2/C=8464;T=56/C=4254;T=58/C=12718	lod=52:391	TOLERATED	NA	-	het	1
10	12	52680160	C	G	ENST00000327741	ENSG00000205426	52679697	52685318	ENSP00000369349	KRT81	-1	KRT81_HUMAN	c.1397G>C	p.G466A	non-syn	NA	-	-	-	DAMAGING	B	-	het	1
11	12	52680190	G	A	ENST00000327741	ENSG00000205426	52679697	52685318	ENSP00000369349	KRT81	-1	KRT81_HUMAN	c.1367C>T	p.P456L	non-syn	rs114447073	0.0034	A=2/G=8386;A=50/G=4248;A=52/G=12634	lod=71:425	DAMAGING	D	-	het	1
12	12	52680911	G	A	ENST00000327741	ENSG00000205426	52679697	52685318	ENSP00000369349	KRT81	-1	KRT81_HUMAN	c.1222C>T	p.R408C	non-syn	NA	-	-	lod=920:699	DAMAGING	D	-	het	1
13	12	52681056	C	T	ENST00000327741	ENSG00000205426	52679697	52685318	ENSP00000369349	KRT81	-1	KRT81_HUMAN	c.1077G>A	p.A359A	syn	rs4761856	0.4369	T=2681/C=5909;T=1321/C=3085;T=4002/C=8994	lod=45:376	-	-	-	het	334
14	12	52681056	C	T	ENST00000327741	ENSG00000205426	52679697	52685318	ENSP00000369349	KRT81	-1	KRT81_HUMAN	c.1077G>A	p.A359A	syn	rs4761856	0.4369	T=2681/C=5909;T=1321/C=3085;T=4002/C=8994	lod=45:376	-	-	-	hom	85
15	12	52681077	C	G	ENST00000327741	ENSG00000205426	52679697	52685318	ENSP00000369349	KRT81	-1	KRT81_HUMAN	c.1056G>C	p.Q352H	non-syn	NA	-	-	lod=103:464	DAMAGING	D	-	het	3
16	12	52681080	G	A	ENST00000327741	ENSG00000205426	52679697	52685318	ENSP00000369349	KRT81	-1	KRT81_HUMAN	c.1053C>T	p.A351A	syn	rs4761784	0.3364	A=2649/G=5951;A=607/G=3799;A=3256/G=9750	lod=103:464	-	-	-	het	324
17	12	52681080	G	A	ENST00000327741	ENSG00000205426	52679697	52685318	ENSP00000369349	KRT81	-1	KRT81_HUMAN	c.1053C>T	p.A351A	syn	rs4761784	0.3364	A=2649/G=5951;A=607/G=3799;A=3256/G=9750	lod=103:464	-	-	-	hom	86
18	12	52681088	C	T	ENST00000327741	ENSG00000205426	52679697	52685318	ENSP00000369349	KRT81	-1	KRT81_HUMAN	c.1045G>A	p.A349T	non-syn	rs201454353	-	T=8/C=8592;T=0/C=4406;T=8/C=12998	-	DAMAGING	P	-	het	3
19	12	52681416	T	C	ENST00000327741	ENSG00000205426	52679697	52685318	ENSP00000369349	KRT81	-1	KRT81_HUMAN	c.990A>G	p.Q330Q	syn	rs7300801	-	C=4253/T=4347;C=2429/T=1977;C=6682/T=6324	lod=369:601	-	-	-	het	237
20	12	52681416	T	C	ENST00000327741	ENSG00000205426	52679697	52685318	ENSP00000369349	KRT81	-1	KRT81_HUMAN	c.990A>G	p.Q330Q	syn	rs7300801	-	C=4253/T=4347;C=2429/T=1977;C=6682/T=6324	lod=369:601	-	-	-	hom	96

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Transcripts and variants in the surrounding KRT81 12:52679697..52685318 region Gbrowse